Fatigue and quality of life in citrin deficiency during adaptation and compensation stage

Citrin-deficient children and adolescents between adult-onset type II citrullinemia and neonatal intrahepatic cholestasis by citrin deficiency do not have clear clinical features except for unusual diet of high-fat, high-protein, and low-carbohydrate food. The aims of the present study are to charac...

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Veröffentlicht in:	Molecular genetics and metabolism 2013-05, Vol.109 (1), p.9-13
Hauptverfasser:	Okano, Yoshiyuki, Kobayashi, Kyoko, Ihara, Kenji, Ito, Tetsuya, Yoshino, Makoto, Watanabe, Yoriko, Kaji, Shunsaku, Ohura, Toshihiro, Nagao, Masayoshi, Noguchi, Atsuko, Mushiake, Sotaro, Hohashi, Naohiro, Hashimoto-Tamaoki, Tomoko
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptation, Physiological Adolescent Aspartate–glutamate carrier Calcium-Binding Proteins - deficiency Carbohydrate Metabolism Child Child, Preschool Citrin Citrullinemia Citrullinemia - metabolism Citrullinemia - pathology Citrullinemia - therapy Diet, High-Fat Fatigue Fatigue - metabolism Fatigue - pathology Fatigue - therapy Female Humans Infant Infant, Newborn Male Mitochondria Organic Anion Transporters - deficiency QOL Quality of Life Young Adult
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